Table 2 The effect on splicing determined by mini-gene assays and an overview of the mutations listed in the literature
Gene | IVS | Mutation | Frequency in the ESP database (Eur. Am.) | Mini-gene assay | Described in the literature | Classification |
|---|---|---|---|---|---|---|
MLH1 | 1 | c.117-34A > T | NI | No effect on splicing | Novel | Neutral |
7 | c.588 + 5G > A | NI | Out-of-frame skipping of exon 7 | Pagenstecher; partial deletion of exon 7 [17] | Pathogenic | |
Tournier; deletion of exon 7 and exons 7–8 [15] | ||||||
8 | c.677 + 3A > T | NI | Out-of-frame skipping of exon 8 | Novel | Pathogenic | |
11 | c.1039-8 T > A | NI | No effect on splicing | Betz; No effect on splicing [16] | Neutral | |
15 | c.1732-2A > T | NI | In-frame skipping of exon 16 | Jäger* [5] | Pathogenic | |
Nilbert* [7] | ||||||
Wijnen* [20] | ||||||
MSH2 | 7 | c.1276 + 1G > T | NI | In-frame exclusion of 48 bp of exon 7 | Mangold* [21] | Pathogenic |
10 | c.1662-2A > C | NI | Out-of-frame skipping of exon 11 | Novel | Pathogenic | |
14 | c.2459-18delT | NI | No effect on splicing | Novel | Neutral | |
MSH6 | 5 | c.3439-16C > T | 0.43% | No effect on splicing | Perez-Cabornero* [22] | Neutral |
Pinto* [23] | ||||||
Sanchez de Abajo* [24] |